Chiari malformation type I with cervicothoracic syringomyelia masquerading as bibrachial amyotrophy: a case report

INTRODUCTION: Clinical presentation of syringomyelia can mimic a variety of neuromuscular disorders. A misdiagnosis can result in progressive pressure on the spinal cord, causing the development of severe irreversible neurologic deficits. CASE PRESENTATION: We report the very unusual case of a 50-year-old Latino man who developed severe distal muscle atrophy and bulbar dysfunction as a result of Chiari malformation type I with chronic cervicothoracic syringomyelia. CONCLUSION: Syringomyelia is a potentially serious neurologic condition with symptoms that can mimic other neuromuscular disorders. Severe untreated cases can result in irreversible spinal cord injury. Prompt diagnosis with magnetic resonance imaging is important in both establishing diagnosis and directing further surgical management.